rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
0.720
GeneticVariation
BEFREE
One of the most common protein tyrosine phosphatase-2 (SHP2) mutations in Noonan syndrome is the N308D mutation, and it increases the activity of the protein.
30304563
2019
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
0.720
GeneticVariation
BEFREE
Redox Regulation of a Gain-of-Function Mutation (N308D ) in SHP2 Noonan Syndrome .
29214238
2017
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
22465605
2012
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.
21590266
2012
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Lethal presentation of neurofibromatosis and Noonan syndrome.
21567923
2011
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
RASopathies: Clinical Diagnosis in the First Year of Life.
22190897
2011
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
21407260
2011
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?
21340158
2010
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.
20979190
2010
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
16358218
2006
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.
15723289
2005
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Genotype-phenotype correlations in Noonan syndrome.
15001945
2004
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
11992261
2002
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
12161469
2002
rs28933386
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
Noonan Syndrome
G
0.720
CausalMutation
CLINVAR
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
11704759
2001